2024
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Lennon N, Kottyan L, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below J, Berndt S, Chung W, Cimino J, Clayton E, Connolly J, Crosslin D, Dikilitas O, Velez Edwards D, Feng Q, Fisher M, Freimuth R, Ge T, Glessner J, Gordon A, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin M, Jarvik G, Karlson E, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder J, Loos R, Luo Y, Malolepsza E, Manolio T, Martin L, McCarthy L, McNally E, Meigs J, Mersha T, Mosley J, Musick A, Namjou B, Pai N, Pesce L, Peters U, Peterson J, Prows C, Puckelwartz M, Rehm H, Roden D, Rosenthal E, Rowley R, Sawicki K, Schaid D, Smit R, Smith J, Smoller J, Thomas M, Tiwari H, Toledo D, Vaitinadin N, Veenstra D, Walunas T, Wang Z, Wei W, Weng C, Wiesner G, Yin X, Kenny E. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature Medicine 2024, 30: 480-487. PMID: 38374346, PMCID: PMC10878968, DOI: 10.1038/s41591-024-02796-z.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresPredictive performance of polygenic risk scoresPerformance of polygenic risk scoresPolygenic risk score performanceRisk scoreGenetic diversity dataElectronic medical recordsDiverse US populationStrength of evidenceDiverse clinical settingsDiverse adultsUS populationHispanic populationCardiometabolic diseasesGenetic ancestryProgram cohortGenetic resultsMedical recordsDiverse populationsMedical actionClinical settingProvidersRisk assessmentScoresDiverse data
1999
Perils, Pitfalls, and Possibilities in Talking About Medical Risk
Bogardus S, Holmboe E, Jekel J. Perils, Pitfalls, and Possibilities in Talking About Medical Risk. JAMA 1999, 281: 1037-1041. PMID: 10086441, DOI: 10.1001/jama.281.11.1037.Peer-Reviewed Original Research
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